Canonical Allele Identifier: CA10605743
Community Standard Title: NM_001267550.2(TTN):c.97908G>A (p.Leu32636=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178540258C>T , CM000664.2:g.178540258C>T GRCh38
NC_000002.11:g.179404985C>T , CM000664.1:g.179404985C>T GRCh37
NC_000002.10:g.179113231C>T NCBI36
NG_011618.3:g.295545G>A , LRG_391:g.295545G>A
NG_051363.1:g.22432C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.97908G>A (TTN) MANE Select NP_001254479.2:p.Leu32636=
ENST00000589042.5:c.97908G>A (TTN) MANE Select ENSP00000467141.1:p.Leu32636=
NM_001256850.1:c.92985G>A (TTN) NP_001243779.1:p.Leu30995=
NM_003319.4:c.70713G>A (TTN) NP_003310.4:p.Leu23571=
NM_133378.4:c.90204G>A (TTN) NP_596869.4:p.Leu30068=
NM_133432.3:c.71088G>A (TTN) NP_597676.3:p.Leu23696=
NM_133437.4:c.71289G>A (TTN) NP_597681.4:p.Leu23763=
NR_038271.1:n.446+16622C>T (TTN-AS1)
NR_038272.1:n.1903+89C>T (TTN-AS1)
ENST00000342175.10:c.71289G>A (TTN) ENSP00000340554.6:p.Leu23763=
ENST00000342175.11:c.71289G>A (TTN) ENSP00000340554.6:p.Leu23763=
ENST00000342992.10:c.90204G>A (TTN) ENSP00000343764.6:p.Leu30068=
ENST00000342992.11:c.90204G>A (TTN) ENSP00000343764.6:p.Leu30068=
ENST00000359218.10:c.71088G>A (TTN) ENSP00000352154.5:p.Leu23696=
ENST00000359218.9:c.71088G>A (TTN) ENSP00000352154.5:p.Leu23696=
ENST00000460472.6:c.70713G>A (TTN) ENSP00000434586.1:p.Leu23571=
ENST00000591111.5:c.92985G>A (TTN) ENSP00000465570.1:p.Leu30995=
ENST00000615779.4:c.92985G>A (TTN) ENSP00000483597.1:p.Leu30995=
XM_011511729.1:c.97005G>A (TTN) XP_011510031.1:p.Leu32335=
XM_011511730.1:c.70899G>A (TTN) XP_011510032.1:p.Leu23633=
XM_011511731.1:c.70758G>A (TTN) XP_011510033.1:p.Leu23586=
XM_017004819.1:c.96801G>A (TTN) XP_016860308.1:p.Leu32267=
XM_017004820.1:c.92199G>A (TTN) XP_016860309.1:p.Leu30733=
XM_017004821.1:c.92196G>A (TTN) XP_016860310.1:p.Leu30732=
XM_017004822.1:c.89238G>A (TTN) XP_016860311.1:p.Leu29746=
XM_017004823.1:c.70854G>A (TTN) XP_016860312.1:p.Leu23618=
XM_024453094.1:c.92349G>A (TTN) XP_024308862.1:p.Leu30783=
XM_024453095.1:c.92346G>A (TTN) XP_024308863.1:p.Leu30782=
XM_024453096.1:c.91779G>A (TTN) XP_024308864.1:p.Leu30593=
XM_024453097.1:c.89121G>A (TTN) XP_024308865.1:p.Leu29707=
XM_024453098.1:c.89040G>A (TTN) XP_024308866.1:p.Leu29680=
XM_024453099.1:c.70803G>A (TTN) XP_024308867.1:p.Leu23601=
XM_024453100.1:c.60657G>A (TTN) XP_024308868.1:p.Leu20219=